دانلود مقالات ISI درباره Sift, Sorting Intolerant From Tolerant + ترجمه فارسی

توالی نسل بعدی برای تشخیص مولکولی بیماری کلیوی پلی کیستیک اتوزومی مغلوب

Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease

Keywords: ARPKD, autosomal recessive polycystic kidney disease; ADPKD, Autosomal Dominant Polycystic Kidney Disease; nsSNPs, non-synonymous SNPs; SIFT, Sorting Intolerant From Tolerant; PolyPhen2, Polymorphism Phenotyping; NGS, Next generation sequencing; ISP, Ion

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Keywords: CRTR-D, Creatine transporter deficiency; 1H-MRS, Proton magnetic resonance spectroscopy; SIFT, Sorting Intolerant From Tolerant; PolyPhen, Polymorphism Phenotyping; EVS, Exome Variant Server; ESP, Exome Sequencing Project; SSF, Splice Site Finder; MaxEntS

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome

Keywords: TRPC6, Transient Receptor Potential cation Channel-6; dbSNP, database of Single Nucleotide Polymorphism; nsSNPs, non-synonymous SNPs; A.A., Amino Acid; SIFT, Sorting Intolerant From Tolerant; PolyPhen, Phenotype Polymorphism; PANTHER, Protein ANalysis THr

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Analysis of consequences of non-synonymous SNP in feed conversion ratio associated TGF-β receptor type 3 gene in chicken

Keywords: FCR, feed conversion ratio; MD, molecular dynamics; SIFT, sorting intolerant from tolerant; SNP, single nucleotide polymorphism; nsSNPs, non-synonymous single nucleotide polymorphisms; AASs, amino acid substitutions; TGFB, transforming growth factor beta;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

In silico analysis of single nucleotide polymorphism (SNP) in human TNF-α gene

Keywords: TNF, tumor necrosis factor; SIFT, Sorting Intolerant from Tolerant; PolyPhen, phenotype polymorphism; SNP, single nucleotide polymorphism; nsSNP, nonsynonymous single nucleotide polymorphism; OMIM, Online Mendelian Inheritance in Man; ANOLEA, Atomic Non-L

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases

Keywords: SIFT, sorting intolerant from tolerant; PolyPhen, polymorphism phenotyping; MSA, multiple sequence alignment; PON-P, pathogenic-or-not-pipeline; UV, unclassified variants; PPV, positive predictive value; NPV, negative predictive valueSingle nucleotide pol

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina

Keywords: CNV, copy number variation; HOX, homeobox; MRKH, Mayer–Rokitansky–Küster–Hauser; MURCS, Müllerian–Renal–Cervicothoracic Somite; PolyPhen, Polymorphism Phenotyping; SIFT, Sorting Intolerant from Tolerant; SNV, single nucleotide variation; SNP, single nucle

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Screening of mutations affecting protein stability and dynamics of FGFR1—A simulation analysis

Keywords: SNPs, Single Nucleotide Polymorphisms; FGFR1, Fibroblast growth factor type 1; SIFT, Sorting Intolerant From Tolerant; PolyPhen 2.0, Polymorphism Phenotyping; OMIM, Online Mendelian Inheritance in Man; NCBI, National Center for Biological Information; SNA

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Use of TILLING and robotised enzyme assays to generate an allelic series of Arabidopsis thaliana mutants with altered ADP-glucose pyrophosphorylase activity

Keywords: ADPG, ADP-glucose; AGPase, ADP-glucose pyrophosphorylase; 3PGA, 3-phosphoglycerate; SIFT, sorting intolerant from tolerant; TILLING, targeting induced local lesions in genomesADP-glucose pyrophosphorylase; Redox regulation; Starch; TILLING; Trehalose-6-ph

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه